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1p35.2 microdeletion syndrome

MedGen UID:
1807819
Concept ID:
C5679992
Disease or Syndrome
Synonyms: Del(1)(p35.2); Deletion 1p35.2; deletion 1p35.2; Monosomy 1p35.2; monosomy 1p35.2
SNOMED CT: 1p35.2 microdeletion syndrome (1228844002); Monosomy 1p35.2 (1228844002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018697
Orphanet: ORPHA456298

Definition

A very rare chromosomal anomaly with characteristics of intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia and a recognisable facial dysmorphism including prominent forehead, long myopathic facies, fine eyebrows, small mouth and micrognathia. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV1p35.2 microdeletion syndrome

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